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  3. SPINT2
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Choanal atresia

Gene: SPINT2

Green List (high evidence)
SPINT2 (serine peptidase inhibitor, Kunitz type 2)
EnsemblGeneIds (GRCh38): ENSG00000167642
EnsemblGeneIds (GRCh37): ENSG00000167642
OMIM: 605124, Gene2Phenotype
SPINT2 is in 6 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least six variants reported
Created: 11 Aug 2016, 9:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Diarrhea 3, secretory sodium, congenital, syndromic 270420

Created: 11 Aug 2016, 9:01 a.m.

Panel version: 0.36

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diarrhea 3, secretory sodium, congenital, syndromic 270420
OMIM
605124
Clinvar variants
Variants in SPINT2
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1, 11th August 2016

11 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SPINT2 was created by sleigh

11 Aug 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SPINT2 was added to Choanal atresiapanel. Sources: Radboud University Medical Center, Nijmegen